Paralogue Annotation for KCNJ2 residue 215

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 215
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 215

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1A214VBartter syndromeMedium9 8841184, 9580661, 22441188

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.



KCNJ2KPKKRNETLVFSHNAVIAMRDGKLCLMWRV>G<NLRKSHLVEAHVRAQLLKSRITSEGEYIPL245
KCNJ1RPKKRAKTITFSKNAVISKRGGKLCLLIRV>A<NLRKSLLIGSHIYGKLLKTTVTPEGETIIL244
KCNJ3QPKKRAETLMFSEHAVISMRDGKLTLMFRV>G<NLRNSHMVSAQIRCKLLKSRQTPEGEFLPL246
KCNJ4RPKKRAQTLLFSHHAVISVRDGKLCLMWRV>G<NLRKSHIVEAHVRAQLIKPYMTQEGEYLPL237
KCNJ5QPKKRAETLMFSNNAVISMRDEKLCLMFRV>G<DLRNSHIVEASIRAKLIKSRQTKEGEFIPL252
KCNJ6QPKKRAETLVFSTHAVISMRDGKLCLMFRV>G<DLRNSHIVEASIRAKLIKSKQTSEGEFIPL255
KCNJ8QAHRRAETLIFSRHAVIAVRNGKLCFMFRV>G<DLRKSMIISASVRIQVVKKTTTPEGEVVPI243
KCNJ9QPNKRAATLVFSSHAVVSLRDGRLCLMFRV>G<DLRSSHIVEASIRAKLIRSRQTLEGEFIPL223
KCNJ10RPKKRAETIRFSQHAVVASHNGKPCLMIRV>A<NMRKSLLIGCQVTGKLLQTHQTKEGENIRL231
KCNJ11QAHRRAETLIFSKHAVIALRHGRLCFMLRV>G<DLRKSMIISATIHMQVVRKTTSPEGEVVPL233
KCNJ12RPKKRAQTLLFSHNAVVALRDGKLCLMWRV>G<NLRKSHIVEAHVRAQLIKPRVTEEGEYIPL246
KCNJ13RPKNRAFSIRFTDTAVVAHMDGKPNLIFQV>A<NTRPSPLTSVRVSAVLYQERENGK----L-217
KCNJ14KPKKRNETLVFSENAVVALRDHRLCLMWRV>G<NLRRSHLVEAHVRAQLLQPRVTPEGEYIPL250
KCNJ15RPKKRAETIKFSHCAVITKQNGKLCLVIQV>A<NMRKSLLIQCQLSGKLLQTHVTKEGERILL230
KCNJ16TARKRAQTIRFSYFALIGMRDGKLCLMWRI>G<DFRPNHVVEGTVRAQLLRYTEDSEGRM-TM233
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G215Dc.644G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. J Mol Cell Cardiol. 2003 35(4):409-15. 12689820
Inherited ArrhythmiaLQTS Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872
Inherited ArrhythmiaLQTS Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay. Ann Clin Lab Sci. 2016 46(1):110-3. 26927354